The hepatocyte nuclear factor 4 alpha (HNF4A) gene is expressed in liver, pancreatic islets cells and kidney. The HNF4A protein belongs to the steroid/thyroid hormone receptor superfamily of transcription factors and regulates expression of the HNF1A gene, hepatic gluconeogenesis, and lipoprotein biosynthesis. Heterozygous mutations of this gene cause beta cell dysfunction, impaired glucose-stimulated insulin secretion, elevated low-density lipoprotein (LDL), and low levels of high-density lipoprotein (HDL) and triglyceride. HNF4A-MODY is characterized by fetal macrosomia, transient neonatal hyperinsulinemic hypoglycemia, progressive development of hyperglycemia, and onset of diabetes mellitus in late adolescence or by 25 years of age. Due to the progressive nature of HNF4A-MODY, patients are susceptible to diabetes-related complications (PMID:33292863).
CIDeRplus
List all interactions
Display Graph